LOCUS       NM_001195597            2512 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens small leucine rich protein 1 (SMLR1), mRNA.
ACCESSION   NM_001195597 NR_015397 XM_001724204 XM_379432 XM_944838
VERSION     NM_001195597.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2512)
  AUTHORS   van Zwol,W., Rimbert,A., Wolters,J.C., Smit,M., Bloks,V.W.,
            Kloosterhuis,N.J., Huijkman,N.C.A., Koster,M.H., Tharehalli,U., de
            Neck,S.M., Bournez,C., Fuh,M.M., Kuipers,J., Rajan,S., de Bruin,A.,
            Ginsberg,H.N., van Westen,G.J.P., Hussain,M.M., Scheja,L.,
            Heeren,J., Zimmerman,P., van de Sluis,B. and Kuivenhoven,J.A.
  TITLE     Loss of hepatic SMLR1 causes hepatosteatosis and protects against
            atherosclerosis due to decreased hepatic VLDL secretion
  JOURNAL   Hepatology 78 (5), 1418-1432 (2023)
   PUBMED   36053190
  REMARK    GeneRIF: Loss of hepatic SMLR1 causes hepatosteatosis and protects
            against atherosclerosis due to decreased hepatic VLDL secretion.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK091900.1, AL355360.17 and AI247685.1.
            
            On Jul 21, 2020 this sequence version replaced NM_001195597.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK091900.1, SRR14038193.2508947.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000541421.2/ ENSP00000456026.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1342              AK091900.1         1-1342
            1343-1343           AL355360.17        116222-116222
            1344-2179           AK091900.1         1344-2179
            2180-2512           AI247685.1         10-342              c
FEATURES             Location/Qualifiers
     source          1..2512
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.1"
     gene            1..2512
                     /gene="SMLR1"
                     /note="small leucine rich protein 1"
                     /db_xref="GeneID:100507203"
                     /db_xref="HGNC:HGNC:44670"
     exon            1..246
                     /gene="SMLR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             9..332
                     /gene="SMLR1"
                     /codon_start=1
                     /product="small leucine-rich protein 1"
                     /protein_id="NP_001182526.1"
                     /db_xref="CCDS:CCDS59036.1"
                     /db_xref="GeneID:100507203"
                     /db_xref="HGNC:HGNC:44670"
                     /translation="MLSKGRSPRRKQVQTQRKAALVLSVTPMVPVGSVWLAMSSVLSA
                     FMRELPGWFLFFGVFLPVTLLLLLLIAYFRIKLIEVNEELSQNCDRQHNPKDGSSLYQ
                     RMKWT"
     exon            247..2512
                     /gene="SMLR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      406..411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMLR1"
                     /note="hexamer: AATAAA"
     polyA_site      430
                     /gene="SMLR1"
                     /note="major polyA site"
     regulatory      640..645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMLR1"
                     /note="hexamer: AATAAA"
     polyA_site      669
                     /gene="SMLR1"
                     /note="major polyA site"
     regulatory      1248..1253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMLR1"
                     /note="hexamer: CATAAA"
     polyA_site      1271
                     /gene="SMLR1"
     regulatory      1559..1564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMLR1"
                     /note="hexamer: AATAAA"
     polyA_site      1580
                     /gene="SMLR1"
                     /note="major polyA site"
     regulatory      2486..2491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMLR1"
                     /note="hexamer: AATAAA"
     polyA_site      2512
                     /gene="SMLR1"
ORIGIN      
        1 actgagacat gctgagcaaa ggccggagcc ccagaagaaa acaagtacag actcagagga
       61 aagctgccct ggtcctgagt gtgactccca tggtccccgt ggggtctgtg tggttggcaa
      121 tgagctctgt gctgtcagct ttcatgaggg agctccctgg ctggttcctg ttctttgggg
      181 tcttcctccc cgtgactttg ctgctgctcc tcctcatcgc ctacttcagg atcaaactga
      241 ttgaggttaa tgaagaactg tcccagaact gtgatcgcca acataatccc aaggatggct
      301 cttccctgta ccagagaatg aaatggacgt gaagttgggg actttccaat aactaaagca
      361 caatgagttt ctactggtca gcaagcaatg gccaacagtt cagctaataa agtaggttga
      421 taaactagaa ccatagcaaa atagaaagaa tactaagata ctcattctga accatactga
      481 aaagtggcag ctattatcta aggggacttc tcagagactc agtataacag cagctcttga
      541 aaagtaccaa gaatggattt cctgggtata tacactggac acattgtaac tttttaactt
      601 ttattgtgac tgtgtctgct ctaaacggca tatttaaaaa ataaaattct gcagcatctt
      661 actacataat cccataggaa cccctattat tccgatttta gaggtgaaga aaccttggta
      721 gagatccaat gaatagcaaa agatgaatgc cttggagaga gctcagtaga ttccatatgc
      781 aagaatattt ccacgttctt cttgcagttc agcaactctt aagtgacaca gttcaggtat
      841 catttttgga cctgactttg cttctctcct tttcctgatt gctttcacaa atcattattg
      901 tcacaaatat gcacaaaaca agtggagtat ccccacacta ggtatggatc acccacaaat
      961 gtagctttca gcatgatgcg acctggaaat gttggcaatt tggtaatggg aaaaggaaag
     1021 ggcagaatgt tcacataatt cctgaggagg agaatacaag tctttgcctg taataccaaa
     1081 atacagggag ctatatctaa ctatgcggat aagtcaacat ttcactacag ttctttttca
     1141 gtgggagccc caaagagaca acataggtaa ttgaaaagaa acttaattct aggggtagtt
     1201 aaacgagatt gtggttactg ttgtgctccc cacattcttc cagttaacat aaatcaaaga
     1261 tgttcaatgc attctaagtg taagactggt tacattccaa tctttgtgca ggacattaac
     1321 aggctgagtg atccacttta taaaacataa tgaatggggt cacctgtaag aaatgcacct
     1381 gtttcagtag tggcttacag tcatactaaa ggttgtgtgg atgacccaaa gcaaaaatat
     1441 accatcagtg ctggattttt actgcttctt cccctcagcc ccaccctaaa attcttgata
     1501 cccattccgt gagtagtttc catttgcact tcttgcataa tataaaactt attgctagaa
     1561 taaagacact cacttctgca ttttactgca cttgattaca atgaaaatgt ctgccggggt
     1621 tttcagactg aactaattca gagtaacagt gctcttgcca tatggaagga ataacaatat
     1681 tctttcagtt ttgggagaga tctcttttta gcccctgggg gaaatcagct tatgtaaaaa
     1741 tgctttcttt aacagaaagt gtgaaaggac agatcgtatt cctatctcag gcagctgcca
     1801 gccacatttg tggctcagct atcaaggttt gctccatctt cctccaataa tgggcacttc
     1861 agaaggccag ttccagctct ggtgggtgct ggtccaccat ctcagctatt gtgataacac
     1921 atgagctcta tatagacatg ttttcagcac caagcactac caagtacttt agaacaaggc
     1981 ctgtttcttt tctgccatcc aatgagagca gagaatctcc aatgaaactg actagattta
     2041 tgaatgtttt ttatatgtag agaggggcag aaacatgttc attttcccat gaaggaacaa
     2101 gtcccaaggg tttatcatct gcctgaaggc actgctaacg aatttgtcaa atcctttatc
     2161 cagcacagct ttaccaagca gctgcacagt caggcctttg cacttctcat tctcataggt
     2221 ccagtttaag atctcattca gtcctgaact gcttcggtcc tttgcattcc tgctgtcttg
     2281 gcctccacct agaccaagtc ggcagtctcc ctacattacc ctacattcag ctgcatccta
     2341 tgctccaagg cctttcacca ggggccagaa atgctcccac aaccctcaat ggtctcacta
     2401 caacagttcc gaatcttatt ccaaatgcta tagtatctga aacggttcac caatagggat
     2461 aatgtttctc caactggaga ccttcaataa aacacttcaa taggtgcttt aa
//
